Overview
This 5-week, 1-credit online graduate-level survey course will cover a range of topics in human genetics, focusing on mutation/variant pathogenic mechanisms and applications in the context of human disease. This course will review concepts and provide a foundation for understanding mechanisms of human molecular pathogenesis at the gene and chromosome level, and understanding the application of genetic knowledge in modern healthcare using real-world examples.
- Credit(s): 1
- Course Format: Asynchronous
- Required: Yes
- Prerequisites: Students must have basic knowledge and understanding of genetics and molecular biology, including nomenclature.
- (PHA 6134) Foundations of Precision Medicine: Genomic Technologies
Course Objectives
Develop a greater understanding of the function and role of the human genome in disease, specifically:
- The human karyotype, modes of Mendelian inheritance, and factors affecting interpretation thereof.
- Mechanisms by which genetic variations contribute to human phenotypes and applications in the clinic.
- Molecular pathogenetic mechanisms of, and techniques to identify, high-penetrance mutations.
- Pathogenesis at the RNA level.
- Genetic association of multifactorial traits, and functional effects of alleles.
- Epigenetics in hereditary disease and genetic susceptibility.
- Cancer genetics concepts: somatic mutations and mechanisms.